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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:combined oxidative phosphorylation deficiency 36
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Accession:DOID:0111482 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. (DO)
Synonyms:exact_synonym: COXPD36
 primary_id: OMIM:617950


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combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL161452.1 novel transcript IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 ClinVar PMID:25741868 PMID:28492532 PMID:29576219 NCBI chr 9:135,503,273...135,506,447
Ensembl chr 9:135,503,273...135,506,447 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29576219 NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10566
      disease of metabolism 10566
        mitochondrial metabolism disease 1236
          combined oxidative phosphorylation deficiency 114
            combined oxidative phosphorylation deficiency 36 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal recessive disease 10238
                combined oxidative phosphorylation deficiency 36 2
paths to the root